Pseudoxanthoma Elasticum Clinical Trial
Official title:
Biological Collection of Renal Cells for the Functional Study of the ABCC6 Transporter on iPS-derived Hepatocytes and Renal Cells
Our objective is to obtain human induced pluripotent stem cells from urine samples of PXE patients for further proteomic and metabolomic studies and treatment screening.
Pseudoxanthoma elasticum (PXE) is a genetic multysystem disorder with cutaneous,
ophtalmological and cardiovascular involvement.
PXE is associated with mutations of ABCC6 gene coding for the membrane transporter ABCC6
protein. This transporter is normally expressed in hepatocytes and epithelial cells of renal
proximal convoluted tubules.
Thus, PXE could be regarded as a metabolic disease of hepatic and renal origin, with clinical
and biological involvement/consequences for remote organs.
The substance transported by ABCC6 protein being still unknown, ethiological PXE treatment
does not exist yet. However, ABCC6 deficiency is associated with low level of blood PPi
(pyrophosphate), which is natural inhibitor of calcium-phosphate deposition.
The aim of the project is to obtain the renal cells derived from PXE patients for their
further usage in proteomic and metabolomic studies, as well as for screening of treatment
modalities aimed to correct ABCC6 functional deficiency.
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